rs727504432
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs727504432(-;-) |
Make rs727504432(-;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 32792712 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs727504432 |
dbSNP (classic) | rs727504432 |
ClinGen | rs727504432 |
ebi | rs727504432 |
HLI | rs727504432 |
Exac | rs727504432 |
Gnomad | rs727504432 |
Varsome | rs727504432 |
LitVar | rs727504432 |
Map | rs727504432 |
PheGenI | rs727504432 |
Biobank | rs727504432 |
1000 genomes | rs727504432 |
hgdp | rs727504432 |
ensembl | rs727504432 |
geneview | rs727504432 |
scholar | rs727504432 |
rs727504432 | |
pharmgkb | rs727504432 |
gwascentral | rs727504432 |
openSNP | rs727504432 |
23andMe | rs727504432 |
SNPshot | rs727504432 |
SNPdbe | rs727504432 |
MSV3d | rs727504432 |
GWAS Ctlg | rs727504432 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504432(-;-) |
Alt | rs727504432(-;-) |
Reference | Rs727504432(A;A) |
Significance | Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy not provided Cardiovascular phenotype Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | PKP2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy not provided Cardiovascular phenotype Arrhythmogenic right ventricular cardiomyopathy, type 9 |
Reversed | 1 |
HGVS | NC_000012.11:g.32945646delT |
CLNSRC | |
CLNACC | RCV000154671.2, RCV000183778.4, RCV000251945.1, RCV000470468.1, |